Advertisement

Journal of Clinical Immunology

, Volume 33, Issue 3, pp 513–519 | Cite as

Major Histocompatibility Complex Class II Deficiency in Kuwait: Clinical Manifestations, Immunological Findings and Molecular Profile

  • Waleed Al-Herz
  • Osama Alsmadi
  • Motasem Melhem
  • Mike Recher
  • Francesco Frugoni
  • Luigi D. Notarangelo
Original Research

Abstract

Major Histocompatibility Complex (MHC) class II deficiency is a combined primary immunodeficiency disease that leads to overwhelming and recurrent infections. It was found to account for 19 % of combined immune deficiency cases in the National Primary Immunodeficiency Disorders Registry in Kuwait, a country with high prevalence of consanguinity. We present the clinical, immunologic and molecular features of 11 Kuwaiti patients who presented with MHC class II deficiency between 2004 and 2011.

Keywords

MHC class II deficiency RFXANK gene molecular diagnosis consanguinity Kuwait 

Notes

Acknowledgments

We thank the patients and their families for their participation in this study. We are grateful to all health care providers who helped in managing these patients. We also thank Dr. Jean Villard from Geneva University Hospital for his support. Special thanks to all personnel working at the Immunology Laboratory, Department of Microbiology, Faculty of Medicine in Kuwait for their participation in the diagnosis of the patients. We also thank the Dasman Diabetes Institute in Kuwait for their support in doing the mutation analysis. Mike Recher was supported by the Swiss National Science Foundation (Grant Nr.:PASMP3-127678). The project was supported by a grant from the Kuwait Foundation for Advancement of Sciences (2010-1302-05).

References

  1. 1.
    Ting JP, Trowsdale J. Genetic control of MHC class II expression. Cell 2002;109(Suppl:S21-33). Epub 2002/05/02.Google Scholar
  2. 2.
    Nekrep N, Fontes JD, Geyer M, Peterlin BM. When the lymphocyte loses its clothes. Immunity. 2003;18(4):453–7. Epub 2003/04/23.PubMedCrossRefGoogle Scholar
  3. 3.
    Picard C, Fischer A. Hematopoietic stem cell transplantation and other management strategies for MHC class II deficiency. Immunol Allergy Clin North Am. 2010;30(2):173–8. Epub 2010/05/25.PubMedCrossRefGoogle Scholar
  4. 4.
    Matheux F. Cellular and gene therapy for major histocompatibility complex class II deficiency. News Physiol Sci. 2004;19(3):154–8.PubMedGoogle Scholar
  5. 5.
    Reith W, Fischer A. Molecular basis of major histocompatibility complex class II deficiency. In: Ochs HD SC, Puck JM, editors. Primary immunodeficiency diseases. New York: Oxford University Press; 2007. p. 227–41.Google Scholar
  6. 6.
    Ouederni M, Vincent QB, Frange P, Touzot F, Scerra S, Bejaoui M, et al. Major histocompatibility complex class II expression deficiency caused by a RFXANK founder mutation: a survey of 35 patients. Blood. 2011;118(19):5108–18. Epub 2011/09/13.PubMedCrossRefGoogle Scholar
  7. 7.
    Al-Mousa H, Al-Shammari Z, Al-Ghonaium A, Al-Dhekri H, Al-Muhsen S, Al-Saud B, et al. Allogeneic stem cell transplantation using myeloablative and reduced-intensity conditioning in patients with major histocompatibility complex class II deficiency. Biol Blood Marrow Transplant: J Am Soc Blood Marrow Transplant. 2010;16(6):818–23. Epub 2010/01/19.CrossRefGoogle Scholar
  8. 8.
    Al-Herz W, Ragupathy R, Massaad MJ, Al-Attiyah R, Nanda A, Engelhardt KR, et al. Clinical, immunologic and genetic profiles of DOCK8- deficient patients in Kuwait. Clin Immunol. 2012;143(3):266–72.PubMedCrossRefGoogle Scholar
  9. 9.
    Shearer WT, Rosenblatt HM, Gelman RS, Oyomopito R, Plaeger S, Stiehm ER, et al. Lymphocyte subsets in healthy children from birth through 18 years of age: the Pediatric AIDS Clinical Trials Group P1009 study. J Allergy Clin Immunol. 2003;112(5):973–80. Epub 2003/11/12.PubMedCrossRefGoogle Scholar
  10. 10.
    Ward AM. PRU handbook of clinical immunochemistry. 8th ed. Sheffield: PRU Publication; 2004.Google Scholar
  11. 11.
    Al-Herz W, Naguib KK, Notarangelo LD, Geha RS, Alwadaani A. Parental consanguinity and the risk of primary immunodeficiency disorders: report from the Kuwait National Primary Immunodeficiency Disorders Registry. Int Arch Allergy Immunol. 2011;154(1):76–80. Epub 2010/07/29.PubMedCrossRefGoogle Scholar
  12. 12.
    Naamane H, El Maataoui O, Ailal F, Barakat A, Bennani S, Najib J, et al. The 752delG26 mutation in the RFXANK gene associated with major histocompatibility complex class II deficiency: evidence for a founder effect in the Moroccan population. Eur J Pediatr. 2010;169(9):1069–74. Epub 2010/04/24.PubMedCrossRefGoogle Scholar
  13. 13.
    Saleem MA, Arkwright PD, Davies EG, Cant AJ, Veys PA. Clinical course of patients with major histocompatibility complex class II deficiency. Arch Dis Child. 2000;83(4):356–9. Epub 2000/09/22.PubMedCrossRefGoogle Scholar
  14. 14.
    Gennery AR, Slatter MA, Grandin L, Taupin P, Cant AJ, Veys P, et al. Transplantation of hematopoietic stem cells and long-term survival for primary immunodeficiencies in Europe: entering a new century, do we do better? J Allergy Clin Immunol. 2010;126(3):602–10. e1-11. Epub 2010/08/03.PubMedCrossRefGoogle Scholar
  15. 15.
    Renella R, Picard C, Neven B, Ouachee-Chardin M, Casanova JL, Le Deist F, et al. Human leucocyte antigen-identical haematopoietic stem cell transplantation in major histocompatiblity complex class II immunodeficiency: reduced survival correlates with an increased incidence of acute graft-versus-host disease and pre-existing viral infections. Br J Haematol. 2006;134(5):510–6. Epub 2006/07/20.PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media New York 2012

Authors and Affiliations

  • Waleed Al-Herz
    • 1
    • 2
  • Osama Alsmadi
    • 3
  • Motasem Melhem
    • 3
  • Mike Recher
    • 4
  • Francesco Frugoni
    • 4
  • Luigi D. Notarangelo
    • 4
  1. 1.Department of Pediatrics, Faculty of MedicineKuwait UniversityKuwaitKuwait
  2. 2.Allergy & Clinical Immunology Unit, Pediatric DepartmentAl-Sabah HospitalKuwaitKuwait
  3. 3.Dasman Genome CentreDasman Diabetes InstituteKuwaitKuwait
  4. 4.Division of Immunology and The Manton Center for Orphan Disease Research, Children’s HospitalHarvard Medical SchoolBostonUSA

Personalised recommendations